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学科主题: 临床医学
题名:
Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases
作者: Li, Xiyuan1; Ding, Yuan1; Liu, Yupeng1; Ma, Yanyan1; Song, Jinqing1; Wang, Qiao1; Li, Mengqiu2; Qin, Yaping2; Yang, Yanling1
关键词: Maple syrup urine disease ; Branched chain amino acids ; BCKDHA gene ; BCKDHB gene ; DBT gene ; Prenatal diagnosis
刊名: EUROPEAN JOURNAL OF MEDICAL GENETICS
发表日期: 2015-11-01
DOI: 10.1016/j.ejmg.2015.10.002
卷: 58, 期:11, 页:617-623
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: OLD ORDER MENNONITES ; BRANCHED-CHAIN ; AMINO-ACIDS ; LIVER-TRANSPLANTATION ; FOUNDER MUTATION ; NEUTRAL AMINO ; DIAGNOSIS ; BRAIN ; DAMAGE ; MSUD
英文摘要:

Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far. In this report, 8 patients (4 girls and 4 boys) with MSUD from 8 unrelated Chinese families were diagnosed at the age of 9 days to 1 year and 8 months. The diagnosis was confirmed by serum BCAAs and genetic analyses. Among the 8 patients, only one was detected by newborn screening. The remaining 7 patients were admitted because of neurological disorders and underwent selective screening. Significantly elevated BCAAs were observed in 7 patients. One patient was diagnosed by post-mortem study. 12 mutations were found in the BCKDHA, BCKDHB and DBT genes. 11 of these mutations were novel: c.178G > T, c.491T > C, c.740A > G, c.1214_1219dupCCAACC and IVS6 + 1delG in BCKDHA; c.482T > G, c.508C > T, c.767A > G, c.768C > G and IVS4, -2A > C in BCKDHB; and c.1A > G in DBT. Only one mutation, c.659C > T in the BCKDHA gene, had been previously reported. 7 patients were treated by dietary intervention and symptomatic therapy. 6 of them showed clinical improvement. The mother of one patient who died from MSUD underwent amniocentesis during her second pregnancy. The BCAAs level in her amniotic fluid was normal. Only one heterozygous mutation, IVS4, -2A > C in the BCKDHB gene, was detected in the cultured amniocytes. The results revealed that the fetus was not affected by MSUD. Normal development and the blood BCAAs profile confirmed the prenatal diagnosis after birth. Thus, we identified eleven novel mutations associated with MSUD in the Chinese population. Prenatal diagnosis of MSUD was successfully performed on one fetus by genetic analysis of the cultured amniocytes. (C) 2015 Elsevier Masson SAS. All rights reserved.

语种: 英语
所属项目编号: 81471097 ; 2012BAI09B04
项目资助者: National Natural Science Foundation of China ; Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology
WOS记录号: WOS:000365349200010
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66397
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
2.Similan Clin, Beijing 100070, Peoples R China

Recommended Citation:
Li, Xiyuan,Ding, Yuan,Liu, Yupeng,et al. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS,2015,58(11):617-623.
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